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Gene: Cfap206 MGI:1916579

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Gene Summary

Name:
cilia and flagella associated protein 206
Synonyms:
1700003M02Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Cfap206em1(IMPC)Mbp HET Early adult 7.52×10-05
female infertility Cfap206em1(IMPC)Mbp HOM Early adult 0.00
male infertility Cfap206em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cfap206 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cfap206 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Cataract 29
Cataract OMIM:115800
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Cataract 44
Developmental cataract OMIM:616509
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Nondisjunction
Decreased fertility OMIM:158250
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Trichomegaly
Cataract OMIM:190330
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Cataract 7
Developmental cataract OMIM:115660
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Deleted in azoospermia
Azoospermia OMIM:400003
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Beemer Lethal Malformation Syndrome
Hydrocephalus, Ambiguous genitalia, Wide nasal bridge OMIM:209970
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615937
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Azoospermia OMIM:615703
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Porencephaly
Ventriculomegaly ORPHA:2940
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Lissencephaly 1
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Ventric... OMIM:607432
Microcephaly 19, Primary, Autosomal Recessive
Simplified gyral pattern, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation OMIM:617800
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly, Hypoplasia of the brainstem, Simplified gyral pattern OMIM:615763
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Simplified gyral pattern ORPHA:329228
Cataract 47
Cataract, Microcornea OMIM:612018
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly, Hypoplasia of the pons, Ventriculomegaly, ... OMIM:618677
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Young Syndrome
Azoospermia OMIM:279000
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Agyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly ORPHA:1084
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly, Gray matter heterotopia, Polymicrogyria OMIM:604213
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Abnormality of neuronal migration OMIM:618709
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
X-Linked Retinoschisis
Cataract ORPHA:792
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Bowen-Conradi Syndrome
Prominent nose, Ventriculomegaly, Cryptorchidism ORPHA:1270
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spastic Paraplegia 88, Autosomal Dominant
Ventriculomegaly, Hypoplasia of the brainstem OMIM:620106
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Leukoencephalopathy With Vanishing White Matter 4
Secondary amenorrhea, Ventriculomegaly, Primary amenorrhea OMIM:620314
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Non-obstructive azoospermia OMIM:618086
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Lissencephaly, Polymicrogyria, Pachygyria, Ventriculomegaly, Hypoplasia of the brainstem OMIM:618730
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly, Cryptorchidism ORPHA:1568
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Prominent nasal bridge, Abnormality of the uterus ORPHA:1788
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Prominent nose, Ventriculomegaly OMIM:304340
Galactosemia Ii
Cataract OMIM:230200
Microlissencephaly
Lissencephaly, Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Ven... ORPHA:1083
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Ante... OMIM:619895
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Galactosemia Iv
Cataract OMIM:618881
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Olivopontocerebellar Atrophy-Deafness Syndrome
Ventriculomegaly ORPHA:2732
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Short nose, Depressed nasal bridge ORPHA:93258
Macrocephaly, Acquired, With Impaired Intellectual Development
Anteverted nares, Ventriculomegaly, Unilateral cryptorchidism, Narrow nasal bridge OMIM:618286
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Subcortical... OMIM:600348
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria ORPHA:171703
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis ORPHA:1496
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Type II lissencephaly OMIM:614830
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Simplified gyral pattern OMIM:613402
Lissencephaly 3
Lissencephaly, Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly, Per... OMIM:611603
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly, Wide nasal bridge ORPHA:3207
Pfeiffer Syndrome Type 2
Short nose, Aqueductal stenosis, Hydrocephalus, Choanal atresia, Depressed nasal bridge ORPHA:93259
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Decreased testicular size, Hypogonadism, Primary amenorrhea OMIM:229070
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Congenital Hydrocephalus
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Colpocephaly, Ventriculomegaly, Bulbous... ORPHA:2185
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Gray matter heterotopia,... ORPHA:352682
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Anteverted nares, Syntelenc... OMIM:609637
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Convex nasal ridge, Simplified gyral pattern, Wide nose OMIM:251230
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Galloway-Mowat Syndrome
Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Hypoplasia of the brainstem OMIM:616486
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Gómez-López-Hernández Syndrome
Hydrocephalus, Anteverted nares, Abnormal brainstem morphology ORPHA:1532
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis ORPHA:3035
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short nose, Choanal atresia, Depressed nasal bridge ORPHA:93260
1Q21.1 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Hypospadias ORPHA:250994
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Abnormality of neuronal migration ORPHA:1980
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria, Abnormal nasal morphology, Depressed nasal bridge ORPHA:83473
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hypoplastic female external genitalia, Hydrocephalus, Anteverted nares, Ventriculomeg... OMIM:618577
Ventriculomegaly And Arthrogryposis
Ventriculomegaly OMIM:619501
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Hypoplasia of the brainstem, Simplified gyral pattern, Hypoplasia of the pons OMIM:619301
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Kleeblattschaedel
Hydrocephalus OMIM:148800
Nathalie Syndrome
Cataract OMIM:255990
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly OMIM:618383
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Ventriculomegaly, Bulbous nose, Hypoplasia of the b... OMIM:617090
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly, Pachygyria OMIM:617613
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Masa Syndrome
Ventriculomegaly ORPHA:2466
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele, Type II lissencephaly ORPHA:324416
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly ORPHA:1261
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Macdermot-Winter Syndrome
Ventriculomegaly, Hypoplastic male external genitalia OMIM:247990
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Adrenal Hypoplasia, Congenital
Azoospermia, Oligozoospermia, Precocious puberty, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:300200
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
47,Xyy Syndrome
Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Cryptorchidism, Micropen... ORPHA:8
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly OMIM:619323
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ventriculomegaly OMIM:613925
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Anteverted nares OMIM:300884
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
17P13.3 Microduplication Syndrome
Short nose, Ventriculomegaly, Wide nose, Hypoplasia of penis ORPHA:217385
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Vacterl With Hydrocephalus
Aqueductal stenosis, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Cryptorchidism ORPHA:3412
Simpson-Golabi-Behmel Syndrome, Type 2
Ventriculomegaly, Recurrent upper respiratory tract infections OMIM:300209
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Elongated superior cerebellar peduncle, Low hanging columella, Hydrocephalus... OMIM:619512
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly ORPHA:500166
3-Hydroxyisobutyric Aciduria
Ventriculomegaly, Hypogonadotropic hypogonadism ORPHA:939
Lissencephaly, X-Linked, 2
Ambiguous genitalia, Lissencephaly, Wide anterior fontanel, Decreased testicular size, Prominent ... OMIM:300215
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Cryptorchidism ORPHA:261102
Mehmo Syndrome
Depressed nasal tip, Broad nasal tip, Ventriculomegaly, Male hypogonadism, Micropenis OMIM:300148
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Cryptorchidism, Hypogonadism OMIM:601794
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Hypoplasia of the brainstem, Simplified gyral pattern OMIM:619302
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic... OMIM:615191
Peho-Like Syndrome
Short nose, Lissencephaly, Polymicrogyria, Pachygyria, Ventriculomegaly OMIM:617507
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Microcephaly 5, Primary, Autosomal Recessive
Ventriculomegaly, Simplified gyral pattern OMIM:608716
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Acalvaria
Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida ORPHA:945
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern OMIM:616540
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Neurooculorenal Syndrome
Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Hypoplasia of the pons, Ventriculomegaly, Cry... OMIM:620305
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Microcephaly 27, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly, Cryptor... OMIM:619180
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Macroorchidism, postpubertal, Infertility, Oligozoospermia, Impoten... ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplasi... OMIM:613153
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:617862
Alexander Disease
Hydrocephalus, Aqueductal stenosis, Precocious puberty ORPHA:58
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Convex nasal ridge, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Orofaciodigital Syndrome Xv
Anteverted nares, Ventriculomegaly, Wide nasal bridge, Molar tooth sign on MRI OMIM:617127
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Fried Syndrome
Hydrocephalus ORPHA:85335
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Ventriculomegaly, Increased CSF protein concentration OMIM:611722
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Molar tooth sign on MRI, Anencephaly OMIM:614120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Depressed nasal bridge, Polymicrogyria OMIM:602501
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
49,Xxxyy Syndrome
External genital hypoplasia, Ambiguous genitalia, Abnormality of the testis size, Decreased testi... ORPHA:261534
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macroorchidism OMIM:300886
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Congenital Disorder Of Glycosylation, Type Iiy
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:620200
Brain Small Vessel Disease 2
Ventriculomegaly, Subcortical heterotopia, Polymicrogyria OMIM:614483
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Trisomy 5P
Ventriculomegaly, Hypoplasia of penis ORPHA:1742
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Ventriculomegaly, Shawl scrotum ORPHA:85277
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Developmental And Epileptic Encephalopathy 70
Ventriculomegaly, Cryptorchidism OMIM:618298
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Lead Poisoning
Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m... ORPHA:330015
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Bicornuate uterus, Prominent nasal bridge OMIM:154400
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly OMIM:616570
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614897
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Lissencephaly ORPHA:1528
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Amenorrhea, Oligozoospermia, Hypogonadism ORPHA:91351
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Wide nasal bridge, Depressed ... OMIM:220220
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Prominent nose, Ventriculomegaly, Wide nasal bridge ORPHA:137831
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Hydrocephalus, Dandy-Walker malformation, Abnormal brainstem morphology, Thick nasal ... ORPHA:163961
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Hypoplasia of the brainstem, Pachygyria OMIM:618174
Lissencephaly 6 With Microcephaly
Lissencephaly, Anteverted nares, Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pa... OMIM:616212
Aniridia 3
Cataract, Aniridia OMIM:617142
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ventriculomegaly, Periventricular heterotopia, Hypoplasia of the brainstem, Simplified gyral pattern OMIM:618273
Retinitis Pigmentosa 40
Cataract OMIM:613801
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1516
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypospadias, Hydrocephalus, Anteverted nares, Cryptorchidism, Micropenis, Depressed n... ORPHA:171839
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism, Wide nasal bridge, Bulbous nose ORPHA:1237
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Hypoplasia of the pons, Ventriculomegaly OMIM:613151
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Anteverted nares, Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculom... OMIM:613443
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Ventriculomegaly, Perisylvian polymicrogyria OMIM:616531
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Hypoplasia of the pons, Hypoplasia of the b... OMIM:615181
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Azoospermia ORPHA:1445
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly ORPHA:85179
Primary Ciliary Dyskinesia
Male infertility, Hydrocephalus, Nasal congestion, Nasal polyposis, Chronic rhinitis, Abnormal sp... ORPHA:244
Vitamin K Antagonist Embryofetopathy
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Myelomeningocele, Depressed nasal b... ORPHA:1914
Joubert Syndrome 31
Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Edinburgh Malformation Syndrome
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Abnormality of neuronal migration ORPHA:1895
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased CSF lactate, Ventriculomegaly, Abnormal brainstem morphology, Abnormal CSF pyruvate fam... ORPHA:255182
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly OMIM:300699
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Frontal polymicrogyria, Hypoplasia of the pons, Perisylvian polymicrogyria, Ventriculomegaly, Hyp... OMIM:606854
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Simplified gyral pattern, Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge OMIM:615760
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Yoon-Bellen Neurodevelopmental Syndrome
Ventriculomegaly OMIM:619701
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Intellectual Developmental Disorder, X-Linked 111
Ventriculomegaly OMIM:301107
Charge Syndrome
Aqueductal stenosis, Labial hypoplasia, Dandy-Walker malformation, Bifid scrotum, Anosmia, Choana... ORPHA:138
Myotonic Dystrophy 2
Oligozoospermia, Hypogonadism OMIM:602668
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Anteverted nares, Short nose, Cryptorchidism ORPHA:2701
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Precocious puberty, Ventriculomegaly, Bulbous nose, Wide nasal bridge OMIM:300958
Autosomal Recessive Primary Microcephaly
Ventriculomegaly, Gray matter heterotopia, Pachygyria ORPHA:2512
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Cornelia De Lange Syndrome 5
Anteverted nares, Decreased testicular size, Prominent nasal bridge, Broad nasal tip, Hypogonadis... OMIM:300882
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Pallister-Hall-Like Syndrome
Short nose, Occipital encephalocele, Hydrocephalus, Micropenis, Depressed nasal bridge OMIM:241800
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Temple Syndrome
Wide nose, Hydrocephalus, Anteverted nares, Decreased testicular size, Precocious puberty, Crypto... OMIM:616222
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly ORPHA:2515
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Hypoplasia of penis, Abnormality of neuronal migration, Ventriculomegaly, Cr... ORPHA:2772
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Depressed nasal... ORPHA:2180
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Periventricular heterotopia, Prominent nasal bridge, Depressed nasal bridge OMIM:618974
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ventriculomegaly OMIM:615362
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
Lissencephaly 8
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agyria, Ventriculomegaly, Hypopla... OMIM:617255
Spastic Paraplegia 47, Autosomal Recessive
Ventriculomegaly, Bulbous nose, Wide nasal bridge OMIM:614066
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Type II lissencephaly ORPHA:272
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomeg... ORPHA:93274
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Polymicrogyria, Gray matter heterotopia, Vent... OMIM:617622
Intellectual Developmental Disorder, Autosomal Dominant 51
Wide nasal base, Low hanging columella, Unilateral cryptorchidism, Ventriculomegaly, Cryptorchidi... OMIM:617788
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly OMIM:618251
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Polymicrogyria, Cryptorchidism, Decreased testicular size, Simplified gyral pattern,... OMIM:300354
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Ventriculomegaly ORPHA:1495
Autosomal Recessive Spastic Paraplegia Type 53
Ventriculomegaly ORPHA:319199
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Catel-Manzke Syndrome
Ventriculomegaly ORPHA:1388
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:101070
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Ventriculomegaly OMIM:617977
Pierpont Syndrome
Ventriculomegaly, Cryptorchidism, Wide nasal ridge, Abnormal cortical gyration ORPHA:487825
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ventriculomegaly OMIM:619150
Ataxia-Deafness-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:1188
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Alkuraya-Kucinskas Syndrome
Short nose, Lissencephaly, Hydrocephalus, Anteverted nares, Dandy-Walker malformation, Hypoplasia... OMIM:617822
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligozoospermia, Female pseudohermaphroditism, Oligomenorrhea, Precocious puberty, A... ORPHA:786
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Broad nasal tip OMIM:609757
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Anteverted nares, Ventriculomegaly, Bulbous nose, Depressed nasal bridge OMIM:617268
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Hypospadias OMIM:218350
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Hemimegalencephaly
Ventriculomegaly, Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Acrofacial Dysostosis, Cincinnati Type
Short nose, Aqueductal stenosis, Bilateral choanal atresia, Hydrocephalus, Anteverted nares, Dand... OMIM:616462
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly OMIM:612951
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Abnormal brainstem morphology, Type II lissencephaly, Pol... ORPHA:370959
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Posterior polar cataract OMIM:613763
Developmental And Epileptic Encephalopathy 9
Ventriculomegaly OMIM:300088
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Decreased testicular size, Shawl scrotum, Ventriculomegaly, Cryptorchid... OMIM:615433
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose, Ventriculomegaly ORPHA:228384
Neuronal Intranuclear Inclusion Disease
Ventriculomegaly, CSF pleocytosis, Increased CSF protein concentration OMIM:603472
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Bulbous nose, Depressed nasal bridge OMIM:614219
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Lissencephaly, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly,... OMIM:615219
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia ORPHA:280679
Optic Pathway Glioma
Hydrocephalus, Precocious puberty ORPHA:2086
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Goldberg-Shprintzen Megacolon Syndrome
Hypospadias, Bifid scrotum, Pachygyria, Ventriculomegaly, Wide nasal bridge ORPHA:66629
Tubulinopathy-Associated Dysgyria
Dysgyria, Abnormal brainstem morphology, Agyria, Hypoplasia of the pons, Pachygyria, Ventriculome... ORPHA:467166
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Cataract 48
Cataract OMIM:618415
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Hypoplasia of the brainstem OMIM:613155
Temple Syndrome
Hydrocephalus, Cryptorchidism, Precocious puberty ORPHA:254516
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Ventriculomegaly, Hypo... OMIM:225790
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Congenital Muscular Dystrophy With Intellectual Disability
Ventriculomegaly, Cryptorchidism, Micropenis, Abnormal pons morphology ORPHA:370968
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly, Depressed nasal bridge OMIM:615286
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Ventriculomegaly ORPHA:457260
6Q25 Microdeletion Syndrome
Ventriculomegaly, External genital hypoplasia, Wide nasal bridge ORPHA:251056
Microhydranencephaly
Hydranencephaly, Prominent nasal bridge, Pachygyria, Ventriculomegaly, Hypoplasia of the brainstem OMIM:605013
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Azoospermia, Hypoplasia of the ovary, Secondar... ORPHA:432
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Myelomeningocele OMIM:306955
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Intellectual Developmental Disorder, Autosomal Recessive 41
Ventriculomegaly, Broad nasal tip OMIM:615637
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Gray matter heterotopia, Depressed nasal bridge ORPHA:2655
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ventriculomegaly, Prominent nasal bridge, Wide nasal bridge OMIM:619556
20P12.3 Microdeletion Syndrome
Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge ORPHA:261295
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Communicating hydrocephalus ORPHA:2184
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Oxoglutarate Dehydrogenase Deficiency
Ventriculomegaly OMIM:203740
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility, Anosmia, Nasal polyposis, Chronic rhinitis, Communica... OMIM:244400
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly ORPHA:2172
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Hypoplasia of penis, Prominent nasal bridge, Small scrotum, Ventriculomegaly, Cryptor... ORPHA:2083
Intellectual Developmental Disorder, Autosomal Recessive 46
Ventriculomegaly OMIM:616116
Infantile Sialic Acid Storage Disease
Hydrocephalus, Anteverted nares OMIM:269920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Hypogonadotropic hypogonadism ORPHA:48431
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Ventriculomegaly, Cryptorchidism, Wide nasal bridge OMIM:175700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Convex nasal ridge, Choanal atresia ORPHA:93262
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Gapo Syndrome
Oligozoospermia, Dysmenorrhea, Hypogonadism, Umbilical hernia, Amenorrhea ORPHA:2067
Orofaciodigital Syndrome Xvii
Prominent nose, Ventriculomegaly, Micropenis OMIM:617926
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Pontocerebellar Hypoplasia, Type 16
Prominent nose, Ventriculomegaly, Hypoplasia of the pons OMIM:619527
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Congenital Varicella Syndrome
Cataract ORPHA:291
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Anteverted nares, Flared nostrils, Ventriculomegaly, Wide nasal bridge OMIM:312170
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Cryptorchidism, Decreased testicular size, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Metatropic Dysplasia
Hydrocephalus, Depressed nasal bridge ORPHA:2635
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Hydrocephalus, Hypoplasia of the brainstem, Hypoplasia of the pons, Broad na... OMIM:614969
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Hemochromatosis, Type 1
Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Testicular atrophy OMIM:235200
Intellectual Developmental Disorder, Autosomal Dominant 70
Low hanging columella, Hydrocephalus, Hypoplasia of the pons, Broad nasal tip, Wide nasal bridge OMIM:620157
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly, Wide nasal bridge ORPHA:2158
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Developmental And Epileptic Encephalopathy 99
Ventriculomegaly, Perisylvian polymicrogyria, Atrophy/Degeneration affecting the brainstem OMIM:619606
Galloway-Mowat Syndrome 5
Ventriculomegaly, Pachygyria OMIM:617731
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Wide anterior fontanel, Abnormality of the male genitalia, Prominent nose, Wide na... OMIM:614886
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Congenital Muscular Dystrophy Without Intellectual Disability
Ventriculomegaly, Gray matter heterotopia, Pachygyria ORPHA:370980
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Low hanging columella, Anteverted nares, Polymicrogyria, Prominent nasal bridge, Ven... ORPHA:500159
Rhombencephalosynapsis
Short nose, Hydrocephalus, Anteverted nares, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Cryptorchidism OMIM:613730
Bresek Syndrome
Hydrocephalus, Convex nasal ridge, Cryptorchidism, Decreased testicular size ORPHA:85284
Houge-Janssens Syndrome 2
Hydrocephalus, Anteverted nares, Ventriculomegaly OMIM:616362
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Depressed nasal bridge, Polymicrogyria ORPHA:60040
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Wide anterior fontanel, Choanal atresia, Fused labia minora, Choanal stenosis, Vag... OMIM:207410
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Ventriculomegaly OMIM:611555
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Lissencephaly Due To Tuba1A Mutation
Lissencephaly, Polymicrogyria, Agyria, Dilated fourth ventricle, Perisylvian polymicrogyria, Pach... ORPHA:171680
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Short nose, Depressed nasal ridge OMIM:300863
Smith-Kingsmore Syndrome
Short nose, Wide anterior fontanel, Perisylvian polymicrogyria, Ventriculomegaly, Cryptorchidism,... OMIM:616638
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Pontocerebellar atrophy, Wide nose, Dilated fourth ventricle, Simplified gyral pattern, Ventricul... OMIM:620428
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Ventriculomegaly, Polymicrogyria OMIM:614254
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Cahmr Syndrome
Lamellar cataract OMIM:211770
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Wide nasal bridge, Pachygyria ORPHA:168486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ventricle, Hypopla... OMIM:613154
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Anteverted nares, Dandy-Walker malformation, Lissencephaly, Cryptorchidism OMIM:612938
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida OMIM:207950
Joubert Syndrome 9
Ventriculomegaly, Molar tooth sign on MRI, Encephalocele OMIM:612285
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
Kohlschutter-Tonz Syndrome
Ventriculomegaly OMIM:226750
Cornelia De Lange Syndrome 2
Anteverted nares, Ventriculomegaly, Prominent nasal bridge OMIM:300590
Rahman Syndrome
Ventriculomegaly, Cryptorchidism OMIM:617537
X-Linked Lissencephaly With Abnormal Genitalia
Ambiguous genitalia, Hypoplasia of penis, Pachygyria, Ventriculomegaly, Cryptorchidism ORPHA:452
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly ORPHA:206559
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Thoracic Dysplasia-Hydrocephalus Syndrome
Depressed nasal ridge, Communicating hydrocephalus ORPHA:1861
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly OMIM:618008
Laurin-Sandrow Syndrome
Abnormality of the nose, Hydrocephalus, Depressed nasal ridge, Prominent nose, Cryptorchidism, Un... ORPHA:2378
Crouzon Syndrome
Hydrocephalus, Convex nasal ridge, Choanal atresia ORPHA:207
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Pachygyria, Polymicrogyria OMIM:603387
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Hypospadias, Depressed nasal bridge OMIM:220210
Luscan-Lumish Syndrome
Long nose, Ventriculomegaly, Polycystic ovaries, Irregular menstruation OMIM:616831
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Hydrocephalus, Colpocephaly, Ventriculomegaly, Periventricular heterotopia, Depressed... OMIM:619833
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Thanatophoric Dysplasia Type 1
Hydrocephalus, Wide anterior fontanel, Gray matter heterotopia, Ventriculomegaly, Depressed nasal... ORPHA:1860
Basilicata-Akhtar Syndrome
Anteverted nares, Precocious puberty, Wide nasal ridge, Choanal stenosis, Ventriculomegaly OMIM:301032
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Abnormality of neuronal migration, Cryptorchidism, Microphallus OMIM:300957
Joubert Syndrome 2
Molar tooth sign on MRI, Encephalocele, Elongated superior cerebellar peduncle, Hydrocephalus, Hy... OMIM:608091
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Gray matter heterotopia OMIM:219730
Neurodevelopmental Disorder With Involuntary Movements
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:617493
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism,... ORPHA:2075
Congenital Disorder Of Glycosylation, Type Iih
Ventriculomegaly, Depressed nasal bridge OMIM:611182
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Skraban-Deardorff Syndrome
Anteverted nares, Ventriculomegaly, Depressed nasal bridge OMIM:617616
Trisomy 1Q
Ambiguous genitalia, Wide nose, Hydrocephalus, Small scrotum, Ventriculomegaly, Cryptorchidism, D... ORPHA:261344
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Ventriculomegaly OMIM:617290
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Recurrent upper respiratory tract inf... OMIM:217090
Hsd10 Disease
Ventriculomegaly ORPHA:391417
Spastic Paraplegia 50, Autosomal Recessive
Ventriculomegaly, Bulbous nose, Wide nasal ridge OMIM:612936
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Micropenis OMIM:308350
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Hemangioblastoma
Hydrocephalus ORPHA:252054
Nephronophthisis 18
Hydrocephalus OMIM:615862
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Baraitser-Winter Syndrome 1
Short nose, Lissencephaly, Anteverted nares, Pachygyria, Ventriculomegaly, Cryptorchidism, Microp... OMIM:243310
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Ventriculomegaly, Cryptorchidism OMIM:619797
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Multiple Mitochondrial Dysfunctions Syndrome 3
Increased CSF glycine concentration, Ventriculomegaly, Increased CSF lactate, Polymicrogyria OMIM:615330
Intellectual Developmental Disorder, Autosomal Dominant 21
Ventriculomegaly, Cryptorchidism OMIM:615502
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Choroid plexus cyst, Bifid nasal tip, Thick nasal alae, Broad nasal t... ORPHA:1827
Walker-Warburg Syndrome
Abnormal cortical gyration, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Polymi... ORPHA:899
Neurodevelopmental Disorder With Dystonia And Seizures
Ventriculomegaly OMIM:619922
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Polymicrogyria OMIM:620156
Leukodystrophy, Hypomyelinating, 24
Ventriculomegaly OMIM:619851
3C Syndrome
Short nose, Hypospadias, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Abnormali... ORPHA:7
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Molar tooth sign on MRI, Gray matter heterotopia, Depressed nasal bridge OMIM:617563
Recombinant Chromosome 8 Syndrome
Anteverted nares, Ventriculomegaly, Cryptorchidism, Depressed nasal bridge OMIM:179613
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Fanconi Anemia, Complementation Group B
Hydrocephalus, Hypergonadotropic hypogonadism, Hypogonadism, Ventriculomegaly, Micropenis OMIM:300514
Desmosterolosis
Abnormality of the nose, Short nose, Abnormal cortical gyration, Ambiguous genitalia, Lissencepha... ORPHA:35107
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Low hanging columella, Prominent nasal bridge, Periventricular nodular heterotopia, ... OMIM:618659
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Anteverted nares, Abnormality of neuronal ... ORPHA:2318
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Cryptorchidism, Wide nasal bridge, Hypospadias OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Po... OMIM:614643
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Short nose, Depressed nasal ridge ORPHA:163966
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the brainstem,... OMIM:616546
Achondroplasia
Hydrocephalus, Anteverted nares, Wide anterior fontanel, Short nasal bridge, Depressed nasal bridge ORPHA:15
Baraitser-Winter Syndrome 2
Ventriculomegaly, Pachygyria, Lissencephaly OMIM:614583
Microcephalic Primordial Dwarfism, Toriello Type
Ventriculomegaly ORPHA:2643
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Wid... ORPHA:1908
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus, Chronic rhinitis, Recurrent upper respiratory tract infections OMIM:618699
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Wide nasal bridge ORPHA:79332
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Ventriculomegaly, Cryptorchidism, Micropenis OMIM:613156
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Ventriculomegaly, Cryptorchidism ORPHA:1647
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly OMIM:616680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Type II lissencephaly, Agyria, Lissencephaly, Hypoplasia of the brainstem OMIM:615249
Hydrolethalus
Anencephaly, Abnormal fallopian tube morphology, Hydrocephalus, Abnormality of the sense of smell... ORPHA:2189
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Increased CSF lactate, Ventriculomegaly OMIM:619059
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Anteverted nares, Polymicrogyria, Prominen... ORPHA:220497
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Anteverted nares, Extra-axial cerebrospinal fluid accumulation, Prominent nasal bridge, Ventricul... OMIM:616900
Mitochondrial Complex I Deficiency, Nuclear Type 19
Ventriculomegaly OMIM:618241
Triploidy
Hypospadias, Hypoplasia of penis, Hydrocephalus, Meningocele, Holoprosencephaly, Ambiguous genita... ORPHA:3376
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Hypoplasia of penis, Hydrocephalus, Ventriculomegaly, Cryptorchidism, Depressed nasal... ORPHA:1812
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Ventriculomegaly, Abnormal nasal morphology, Hypospadias ORPHA:3224
Desmosterolosis
Short nose, Ambiguous genitalia, male, Hydrocephalus, Anteverted nares, Hypoplastic nasal bridge,... OMIM:602398
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Cryptorchidism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Intellectual Developmental Disorder, Autosomal Dominant 64
Anteverted nares, Periventricular nodular heterotopia, Ventriculomegaly, Bulbous nose, Depressed ... OMIM:619188
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal brainstem morphology, Polymicrogyria, Agyria, Abnormal pons morphology, Ventriculomegaly ORPHA:370997
Multiple Sulfatase Deficiency
Hydrocephalus, Anteverted nares, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Narp Syndrome
Ventriculomegaly ORPHA:644
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Anteverted nares, Hypoplasia of the pons, Ventriculomegaly, Wide nasal bridge, Depres... OMIM:616430
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Extra-axial cerebrospinal fluid accumulation, Prominent nasal bridge, Simplified gyra... OMIM:619179
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele OMIM:607361
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligozoospermia, Clitoral hypoplasia OMIM:614813
Caribbean Parkinsonism
Ventriculomegaly ORPHA:97355
Peho Syndrome
Short nose, Hydrocephalus, Anteverted nares, Atrophy/Degeneration affecting the brainstem, Ventri... ORPHA:2836
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Hydrocephalus, Anteverted nares, Bifid scrotum, Choanal atresia, Prominent scrotal r... OMIM:123790
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism OMIM:310400
Mulibrey Nanism
Wide nose, Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge OMIM:253250
Arachnoiditis
Hydrocephalus ORPHA:137817
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Wide anterior fontanel, Depressed nasal bridge, Uterine leiomyoma, Irregular menst... OMIM:616482
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Ambiguous genitalia, Hypospadias, Wide nose, Hydrocephalus, Anteverted nares, Dandy-W... OMIM:257300
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Hypoplasia of the ventral pons, Hypoplasia of the brainstem, Abnormal cortical ... ORPHA:2524
Juvenile Huntington Disease
Ventriculomegaly ORPHA:248111
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Developmental And Epileptic Encephalopathy 64
Low insertion of columella, Anteverted nares, Broad nasal tip, Ventriculomegaly, Depressed nasal ... OMIM:618004
Pfeiffer Syndrome
Short nose, Hydrocephalus, Choanal atresia, Choanal stenosis, Depressed nasal bridge OMIM:101600
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Hydrocephalus, Hydrocele testis, Ventriculomegaly, Wide nasal bridge, Short columella OMIM:613603
Clcn4-Related X-Linked Intellectual Disability Syndrome
Ventriculomegaly, Cryptorchidism ORPHA:485350
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Cryptorchidism ORPHA:77298
Seckel Syndrome 9
Clitoral hypertrophy, Ambiguous genitalia, Simplified gyral pattern, Agonadism, Convex nasal ridg... OMIM:616777
Pontocerebellar Hypoplasia, Type 9
Hypoplasia of the pons, Ventriculomegaly OMIM:615809
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Choanal atresia, Ventriculomegaly, Bulbous nose, Depressed nasal bridge ORPHA:284169
Noonan Syndrome 12
Ventriculomegaly OMIM:618624
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Small scrotum, Microphallus, Prominent nose, Ventriculomegaly, Cryptorchidism, Micropenis OMIM:300486
Chromosome 2P16.1-P15 Deletion Syndrome
Prominent nasal tip, Decreased testicular size, Hypoplasia of the pons, Hypogonadism, Recurrent u... OMIM:612513
Joubert Syndrome
Encephalocele, Hydrocephalus, Anteverted nares, Polymicrogyria, Abnormality of neuronal migration... ORPHA:475
Lowry-Maclean Syndrome
Short nose, Hypospadias, Hydrocephalus, Choanal atresia, Bilateral cryptorchidism, Short nasal br... ORPHA:2409
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Endocrine-Cerebroosteodysplasia
Ambiguous genitalia, Hypospadias, Focal polymicrogyria, Hydrocephalus, Depressed nasal tip, Micro... OMIM:612651
Joubert Syndrome 14
Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Pr... OMIM:614424
Hec Syndrome
Vaginal hydrocele, Communicating hydrocephalus ORPHA:2119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly, Agyria, Polymicrogyria OMIM:616538
Emanuel Syndrome
Low hanging columella, Hydrocephalus, Dandy-Walker malformation, Infertility, Hypogonadism, Ventr... ORPHA:96170
Pyridoxine-Dependent Epilepsy
Ventriculomegaly ORPHA:3006
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Anteverted nares, Lateral ventricle dilatation, Depressed nas... OMIM:619534
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Ventriculomegaly, Wide nasal bridge OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Bulbous nose, Wide nasal bridge, Noncommunicating hydrocephalus OMIM:619320
Tenorio Syndrome
Hydrocephalus, Anteverted nares, Ventriculomegaly, Wide nose OMIM:616260
Malan Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the brainstem, Depressed nasal bridge, Lateral ventricle dilatation ORPHA:420179
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular heterotopia, Hypoplasia of the brainstem, Pachygyria ORPHA:255138
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Hypogonadism, Ventriculomegaly, Cryptorchidism, Micropenis ORPHA:500055
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Prominent nasal bridge, Cryptorchidism, Micropenis, Depressed nasal bridge OMIM:619951
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Lipoyltransferase 1 Deficiency
Ventriculomegaly OMIM:616299
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Ventriculomegaly, Wide nasal bridge OMIM:611087
Xq12-Q13.3 Duplication Syndrome
Ventriculomegaly, Cryptorchidism, Depressed nasal bridge, Recurrent upper respiratory tract infec... ORPHA:314389
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Extra-axial cerebrospin... OMIM:619383
Christianson Syndrome
Abnormality of the nose, Ventriculomegaly ORPHA:85278
Emanuel Syndrome
Low hanging columella, Hydrocephalus, Dandy-Walker malformation, Recurrent sinusitis, Ventriculom... OMIM:609029
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly OMIM:618228
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Abnormal... ORPHA:90791
Trisomy 17P
Wide nose, Hypoplasia of penis, Hydrocephalus, Thick nasal alae, Prominent nose ORPHA:261290
Pontocerebellar Hypoplasia, Type 10
Short nose, Low hanging columella, Cryptorchidism, Simplified gyral pattern, Ventriculomegaly, Bu... OMIM:615803
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Bulbous nose, Periventricular heterot... OMIM:618476
Holoprosencephaly 3
Abnormality of the nose, Single naris, Proboscis, Holoprosencephaly, Ventriculomegaly, Depressed ... OMIM:142945
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Anteverted nares, Depressed nasal bridge, Communicating hydrocephalus ORPHA:1064
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Ventriculomegaly, Increased CSF protein concentration, Wide nasal bridge OMIM:218000
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Premature ovarian insufficiency, Hypospadias, Low hanging columella, Endometriosis, Ve... ORPHA:363444
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Anteverted nares, Bifid scrotum, Choanal atresia, Prominent scrotal raphe, Cryptor... ORPHA:1555
Mitochondrial Complex I Deficiency, Nuclear Type 33
Increased CSF lactate, Ventriculomegaly, Hypospadias, Simplified gyral pattern OMIM:618253
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Ventriculomegaly, Broad nasal tip, Underdeveloped nasal alae, Low hanging columella ORPHA:404473
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Anteverted nares, Polymicrogyria, Prominen... ORPHA:220493
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Gm1-Gangliosidosis, Type Iii
Ventriculomegaly OMIM:230650
Femoral-Facial Syndrome
Short nose, Ventriculomegaly, Cryptorchidism, Long penis ORPHA:1988
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Roifman-Chitayat Syndrome
Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge OMIM:613328
Cerebrooculofacioskeletal Syndrome 1
Prominent nose, Ventriculomegaly, Cryptorchidism, Prominent nasal bridge OMIM:214150
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Chromosome 19P13.13 Deletion Syndrome
Ventriculomegaly OMIM:613638
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Polymicrogyria, Ventriculomegaly, Cryptorchidism, Depressed nasal bridge ORPHA:457485
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Perineal fistula, Rectovaginal fistula ORPHA:3016
Crane-Heise Syndrome
Hypoplasia of penis, Anteverted nares, Ventriculomegaly, Cryptorchidism, Depressed nasal bridge ORPHA:1512
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ventriculomegaly, Cryptorchidism ORPHA:88639
Tetrasomy 5P
Short nose, Hydrocephalus, Anteverted nares, Wide anterior fontanel, Wide nasal bridge ORPHA:3309
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Anteverted nares, Prominent nasal tip, Convex nasal ridge, Ventriculomegaly, Periventricular hete... OMIM:618870
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Simplifie... OMIM:617669
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Meningocele, Anteverted nares, Ventriculomegaly, Underdeveloped nasal alae ORPHA:2031
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly OMIM:618603
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Narrow nasal bridge, Hypoplastic labia minora, I... ORPHA:398079
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria, Ovarian neoplasm ORPHA:65285
Cerebrooculonasal Syndrome
Short nose, Proboscis, Encephalocele, Hydrocephalus, Anteverted nares, Dandy-Walker malformation,... OMIM:605627
Ogden Syndrome
Enlarged naris, Ventriculomegaly, Cryptorchidism, Underdeveloped nasal alae, Short columella ORPHA:276432
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Anteverted nares, Ventriculomegaly, Bulbous nose OMIM:618547
Proteus-Like Syndrome
Hydrocephalus, Anteverted nares, Polycystic ovaries, Communicating hydrocephalus ORPHA:2969
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly ORPHA:251009
Warburg Micro Syndrome 3
Short nose, Polymicrogyria, Hypoplastic labia minora, Decreased testicular size, Small scrotum, V... OMIM:614222
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Dilated fourth ventricle, Thicke... OMIM:610688
Developmental And Epileptic Encephalopathy 49
Prominent nose, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:617281
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly OMIM:620210
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Perisylvian polymicrogyria, L... OMIM:618291
H Syndrome
Recurrent pharyngitis, Azoospermia, Hydrocephalus, Chronic rhinitis, Decreased testicular size, H... ORPHA:168569
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Polymicrogyria, Abnormal CSF pyruvate family amino acid concentration, Lat... ORPHA:79243
Fraser Syndrome 3
Wide nose, Hypoplasia of penis, Hydrocephalus, Small scrotum, Convex nasal ridge OMIM:617667
Crouzon Syndrome
Hydrocephalus, Deviated nasal septum, Dysgerminoma OMIM:123500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Male infertility, Female external genitalia in individua... ORPHA:90793
Bloom Syndrome
Premature ovarian insufficiency, Oligozoospermia, Male infertility, Azoospermia ORPHA:125
16P13.11 Microdeletion Syndrome
Short nose, Anteverted nares, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomeg... ORPHA:261236
Rasmussen Subacute Encephalitis
Ventriculomegaly, Abnormal cerebrospinal fluid morphology, Increased CSF protein concentration ORPHA:1929
Pseudo-Torch Syndrome 1
Lissencephaly, Anteverted nares, Polymicrogyria, Increased CSF protein concentration, Pachygyria,... OMIM:251290
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:2169
Hypoplasminogenemia
Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malformation, Abnormality of the ... ORPHA:722
Multiple Sulfatase Deficiency
Hydrocephalus, Anteverted nares, Depressed nasal bridge ORPHA:585
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventriculomegaly, Cryptorchidism, Prominent nasal bridge, Wide nasal bridge OMIM:617452
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Hypoplastic male external geni... OMIM:236670
Linear Verrucous Nevus Syndrome
Ventriculomegaly, Dandy-Walker malformation ORPHA:2611
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Ventriculomegaly ORPHA:500180
4Q21 Microdeletion Syndrome
Ventriculomegaly, Depressed nasal bridge ORPHA:238750
Snijders Blok-Campeau Syndrome
Prominent nose, Ventriculomegaly, Wide nasal bridge OMIM:618205
Rabin-Pappas Syndrome
Low hanging columella, Hydrocephalus, Hypoplasia of the pons, Broad nasal tip, Wide nasal bridge OMIM:620155
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Anteverted nares, Choanal atresia, Ventriculomegaly, Cryptorchidism ORPHA:494344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Ventriculomegaly, Pachygyria OMIM:606612
Weiss-Kruszka Syndrome
Anteverted nares, Short nose, Colpocephaly, Ventriculomegaly OMIM:618619
Houge-Janssens Syndrome 3
Ventriculomegaly, Hypoplasia of the brainstem, Broad nasal tip OMIM:618354
Cadds
Short nose, Ventriculomegaly ORPHA:369942
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Cryptorchidism, Vaginal atresia, Aplasia/Hypoplasia involving the nose ORPHA:3301
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Neurocutaneous Melanocytosis
Ventriculomegaly, Abnormality of neuronal migration, Dandy-Walker malformation, Meningocele ORPHA:2481
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly, Abnormal cortical gyration OMIM:614576
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Hypospadias, Anteverted nares, Ventriculomegaly, Micropenis, Wide nasal bridge OMIM:616897
Sandestig-Stefanova Syndrome
Convex nasal ridge, Ventriculomegaly, Wide nasal bridge OMIM:618804
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Ventriculomegaly OMIM:618707
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge ORPHA:459061
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Clitoral hypertrophy, Hydrocele testis ORPHA:96181
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hydrocephalus, Anteverted nares, Broad nasal tip, Hypogonadism, Cryptorch... OMIM:101800
Congenital Disorder Of Glycosylation, Type Ii
Ventriculomegaly, Wide nasal bridge OMIM:607906
Mirage Syndrome
Hypospadias, Hydrocephalus, Microphallus, Decreased testicular size, Hypergonadotropic hypogonadi... OMIM:617053
Apert Syndrome
Ovarian neoplasm, Hydrocephalus, Choanal atresia, Convex nasal ridge, Ventriculomegaly, Depressed... ORPHA:87
Gracile Bone Dysplasia
Hydrocephalus, Micropenis OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Holoprosencephaly, P... OMIM:253800
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Narrow nasal ridge, Bulbous nose OMIM:612940
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased CSF lactate, Ventriculomegaly OMIM:619051
Holoprosencephaly 7
Short nose, Midline defect of the nose, Semilobar holoprosencephaly, Alobar holoprosencephaly, Hy... OMIM:610828
Spastic Paraplegia 51, Autosomal Recessive
Long nose, Ventriculomegaly, Bulbous nose, Wide nasal bridge OMIM:613744
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventriculomegaly, Cryptorchidism, Prominent nasal bridge, Wide nose ORPHA:505237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the... OMIM:615287
Chromosome 1Q41-Q42 Deletion Syndrome
Anteverted nares, Broad nasal tip, Holoprosencephaly, Ventriculomegaly, Cryptorchidism, Depressed... OMIM:612530
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Short nose, Ventriculomegaly OMIM:613735
Muenke Syndrome
Hydrocephalus ORPHA:53271
Mitochondrial Complex I Deficiency, Nuclear Type 37
Increased CSF lactate, Ventriculomegaly, Hypospadias OMIM:619272
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Convex nasal ridge, Ventriculomegaly, Cryptorchidism, Micropenis, Depressed nasal bridge OMIM:241410
Pyruvate Dehydrogenase Deficiency
Ventriculomegaly, Wide nasal bridge ORPHA:765
Hyperparathyroidism, Transient Neonatal
Anteverted nares, Communicating hydrocephalus, Short nasal bridge, Ovarian cyst, Ventriculomegaly... OMIM:618188
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Marshall-Smith Syndrome
Anteverted nares, Short nose, Choanal atresia, Ventriculomegaly ORPHA:561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Type II lissencephaly, Pachygyria, Ventriculomegaly, Hypoplasia of ... OMIM:613150
Microcephaly 30, Primary, Autosomal Recessive
Ventriculomegaly, Choanal stenosis OMIM:620183
Tatton-Brown-Rahman Syndrome
Anteverted nares, Ventriculomegaly, Short columella OMIM:615879
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly ORPHA:1933
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Trichorhinophalangeal Syndrome Type 2
Ventriculomegaly, Bulbous nose, Thick nasal alae, Wide nasal bridge ORPHA:502
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cryptorchidism, Wide nasal bridge, Encephalocele ORPHA:1865
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Ventriculomegaly ORPHA:363429
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Anteverted nares, Spina bifida, Prominent nasal bridge, Bulbous nose, Depressed na... OMIM:613776
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Fg Syndrome Type 1
Hypospadias, Hydrocephalus, Choanal atresia, Prominent nose, Ventriculomegaly, Cryptorchidism ORPHA:93932
Temtamy Syndrome
Convex nasal ridge, Ventriculomegaly OMIM:218340
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Ventriculomegaly ORPHA:500533
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic... ORPHA:1772
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Ventriculomegaly, Hypoplasia of the brainstem OMIM:617807
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus OMIM:259710
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Dandy-Walker malformation, Ventriculomegaly, Bulbous nose, Wide nasal bridge OMIM:220500
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased CSF lactate, Ventriculomegaly, Depressed nasal bridge OMIM:604377
Cog8-Cdg
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem ORPHA:95428
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Pseudo-Torch Syndrome 2
Ventriculomegaly, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Abnormal internal genitalia, Anencephaly OMIM:612284
Malan Syndrome
Short nose, Ventriculomegaly OMIM:614753
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Short nose, Broad nasal tip, Wide nasal bridge OMIM:239300
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Bicornuate uterus, Holoprosencephaly, Cryptorchidis... OMIM:264480
Congenital Disorder Of Glycosylation, Type If
Ventriculomegaly, Wide anterior fontanel OMIM:609180
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Pontocerebellar Hypoplasia, Type 2E
Short nose, Ventriculomegaly, Wide nose OMIM:615851
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Dpm1-Cdg
Ventriculomegaly, Pontocerebellar atrophy, External genital hypoplasia, Depressed nasal bridge ORPHA:79322
19P13.12 Microdeletion Syndrome
Hypospadias, Narrow nasal bridge, Anteverted nares, Precocious puberty, Ventriculomegaly, Cryptor... ORPHA:254346
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Hydrocephalus, Anteverted nares, Aplasia of the uterus, Olivopontocerebell... ORPHA:457284
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Long nose, Short nose, Depressed nasal bridge OMIM:618590
Martsolf Syndrome 1
Enlarged sylvian cistern, Broad nasal tip, Ventriculomegaly, Cryptorchidism, Micropenis, Hypogona... OMIM:212720
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Cryptorchidism, Short columella ORPHA:404443
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge OMIM:612582
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia OMIM:187600
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Prominent nasal bridge, Broad nasal tip, Simplified gyral pattern, Convex nasal ridge,... OMIM:616541
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Buphthalmos, Corneal scarring, Iris coloboma OMIM:212550
Mpdu1-Cdg
Ventriculomegaly, Wide anterior fontanel ORPHA:79323
Icf Syndrome
Depressed nasal bridge, Communicating hydrocephalus ORPHA:2268
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Anteverted nares, Lateral ventricle dilatation OMIM:612863
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Wide nasal bridge, Depressed nasal bridge OMIM:104350
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Amish Lethal Microcephaly
Ventriculomegaly, Lissencephaly, Spina bifida ORPHA:99742
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly OMIM:619074
Sanjad-Sakati Syndrome
Hypoplasia of penis, Convex nasal ridge, Ventriculomegaly, Cryptorchidism, Depressed nasal bridge ORPHA:2323
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Narrow nasal ridge, Lateral ventricular asymmetry, Prominent nasal bridge, Narrow ... OMIM:616914
Smith-Magenis Syndrome
Short nose, Anteverted nares, Precocious puberty, Ventriculomegaly, Wide nasal bridge, Depressed ... ORPHA:819
Pontocerebellar Hypoplasia, Type 2B
Ventriculomegaly, Hypoplasia of the brainstem, Simplified gyral pattern OMIM:612389
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Hydrocephalus, Chordee, C... OMIM:309801
Fumarase Deficiency
Lissencephaly, Anteverted nares, Choroid plexus cyst, Polymicrogyria, Mitochondrial swelling, Ven... OMIM:606812
Congenital Disorder Of Deglycosylation 2
Ventriculomegaly, Gray matter heterotopia, Polymicrogyria, Short columella OMIM:619775
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Ventriculomegaly OMIM:615182
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly OMIM:618314
Pelvis-Shoulder Dysplasia
Hydrocephalus, Ambiguous genitalia, Spina bifida, Hydranencephaly ORPHA:2839
Thanatophoric Dysplasia, Type Ii
Ventriculomegaly OMIM:187601
Koolen-De Vries Syndrome
Hypospadias, Thick nasal alae, Cryptorchidism, Prominent nasal bridge, Ventriculomegaly, Bulbous ... ORPHA:96169
Combined Oxidative Phosphorylation Deficiency 39
Increased CSF lactate, Ventriculomegaly, Simplified gyral pattern, Pachygyria OMIM:618397
Xeroderma Pigmentosum, Complementation Group B
Ventriculomegaly, Hypogonadism OMIM:610651
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Ambiguous geni... ORPHA:2166
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Ventriculomegaly, Broad nasal tip, Wide nasal bridge OMIM:614749
Neu-Laxova Syndrome
External genital hypoplasia, Ambiguous genitalia, Abnormal cortical gyration, Lissencephaly, Dand... ORPHA:2671
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Hypospadias, Lateral ventricle dilatation, Ventriculomegaly, Micropenis,... OMIM:619479
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Ventriculomegaly OMIM:300858
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Ventriculomegaly, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:617159
Gorlin Syndrome
Hydrocephalus, Ovarian fibroma, Abnormality of the sense of smell, Cryptorchidism, Wide nasal bri... ORPHA:377
Xfe Progeroid Syndrome
Convex nasal ridge, Ventriculomegaly, Premature ovarian insufficiency OMIM:610965
Prader-Willi Syndrome
External genital hypoplasia, Premature pubarche, Narrow nasal bridge, Hypoplastic labia minora, I... ORPHA:739
Holoprosencephaly 9
Short nose, Abnormal cortical gyration, Single naris, Alobar holoprosencephaly, Hydrocephalus, La... OMIM:610829
Fanconi Anemia, Complementation Group W
Ventriculomegaly OMIM:617784
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Long nose, Anteverted nares, Cryptorchidism, Ventriculomegaly, Bulbous nose, Micropenis, Depresse... OMIM:620224
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Gillespie Syndrome
Ventriculomegaly OMIM:206700
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism OMIM:613001
Neu-Laxova Syndrome 2
Ventriculomegaly, Lissencephaly, Depressed nasal ridge, Spina bifida OMIM:616038
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Anteverted nares, Atrophy/Degeneration affecting the brainstem, Polymicrogyria, Micro... OMIM:618454
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Narrow nasal bridge, Hypoplastic labia minora, I... ORPHA:398069
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Jacobsen Syndrome
Short nose, Hypospadias, Hydrocephalus, Anteverted nares, Labial hypoplasia, Clitoral hypoplasia,... OMIM:147791
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly OMIM:618381
Monosomy 18Q
Hydrocephalus, Bilateral cryptorchidism, Choanal stenosis, Prominent nose, Bulbous nose, Micropen... ORPHA:1600
16Q24.3 Microdeletion Syndrome
Anteverted nares, Colpocephaly, Ventriculomegaly, Cryptorchidism, Periventricular heterotopia ORPHA:261250
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation, Abnormal external genitalia, Hydrocele testis ORPHA:314588
Saul-Wilson Syndrome
Convex nasal ridge, Ventriculomegaly, Wide anterior fontanel, Narrow nasal bridge OMIM:618150
Mend Syndrome
Abnormal nasal bridge morphology, Hydrocephalus, Dandy-Walker malformation, Wide anterior fontane... ORPHA:401973
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Lissencephaly Due To Lis1 Mutation
Dysgyria, Posterior predominant thick cortex pachygyria, Agyria, Anterior predominant thick corte... ORPHA:95232
Opitz-Kaveggia Syndrome
Hypospadias, Hydrocephalus, Wide anterior fontanel, Choanal atresia, Gray matter heterotopia, Pro... OMIM:305450
Thakker-Donnai Syndrome
Anteverted nares, Bulbous nose, Rectovaginal fistula, Communicating hydrocephalus ORPHA:1780
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Anteverted nares, Abnormality of neuronal migration, Prom... ORPHA:1454
Muscular Dystrophy, Congenital, With Or Without Seizures
Ventriculomegaly OMIM:620166
Orofaciodigital Syndrome Ii
Hydrocephalus, Bifid nasal tip, Broad nasal tip, Depressed nasal bridge OMIM:252100
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Anteverted nares, Short nose, Ventriculomegaly ORPHA:1358
Craniopharyngioma
Abnormal nasal bone morphology, Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:54595
Lateral Meningocele Syndrome
Hydrocephalus, Cryptorchidism, Short nasal bridge, Meningocele OMIM:130720
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Hypoplasia of penis, Anteverted nares, Abnormal testis morphology, Ventriculomegaly, ... ORPHA:96147
Neurodegeneration And Seizures Due To Copper Transport Defect
Increased CSF lactate, Ventriculomegaly, Glandular hypospadias, Decreased CSF copper concentration OMIM:620306
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Hyposmia, Anteverted nares, Hydrocephalus, Dandy-Walker malfo... ORPHA:2162
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele, Hypospadias ORPHA:1335
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Hypospadias OMIM:313850
Carney Complex
Testicular neoplasm, Decreased fertility in males, Ovarian dermoid cyst, Oligozoospermia, Ovarian... ORPHA:1359
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly OMIM:618052
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ventriculomegaly ORPHA:466934
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Achondroplasia
Hydrocephalus, Choanal stenosis, Depressed nasal bridge, Brain stem compression OMIM:100800
Glycine Encephalopathy With Normal Serum Glycine
Anteverted nares, Ventriculomegaly, Depressed nasal bridge OMIM:617301
1P31P32 Microdeletion Syndrome
Ventriculomegaly ORPHA:401986
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Dandy-Walker malformation, Choanal atresia, Prominent nose, Ventricul... OMIM:300968
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Increased CSF lactate, Ventriculomegaly, Hypoplasia of the pons ORPHA:500144
Shashi-Pena Syndrome
Ventriculomegaly, Broad nasal tip, Mild fetal ventriculomegaly OMIM:617190
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Bulbous nose, Wide nasal bridge, Cryptorchidism ORPHA:250989
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Premature pubarche, Hypoplastic labia minora, Infertility, Clitoral ... ORPHA:98754
Dextrocardia
Hydrocephalus, Abnormal reproductive system morphology ORPHA:1666
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Hypospadias, Elongated superior cerebellar pedu... ORPHA:397715
Beck-Fahrner Syndrome
Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation OMIM:618798
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Ventriculomegaly, Penile hypospadias ORPHA:73230
Monosomy 9Q22.3
Hydrocephalus, Short nose, Ventriculomegaly, Ovarian fibroma ORPHA:77301
Intellectual Disability-Alacrima-Achalasia Syndrome
Ventriculomegaly ORPHA:289483
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Anteverted nares, Lobar holoprosencephaly, Ventriculomegaly, Wide nasal bridge OMIM:614701
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Stromme Syndrome
Hydrocephalus, Prominent nasal bridge, Wide nasal bridge, Short columella OMIM:243605
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ventriculomegaly, Retractile testis, Atrophy/Degeneration affecting the brainstem, Low hanging co... OMIM:617193
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Ventriculomegaly OMIM:617903
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal female external genitalia morphology, Precocious puberty, Prominent nose, Ventriculomega... ORPHA:2637
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Premature pubarche, Hypoplastic labia minora, Infertility, Clitoral ... ORPHA:98793
Asparagine Synthetase Deficiency
Prominent nasal tip, Dilated third ventricle, Dilated fourth ventricle, Hypoplasia of the pons, S... OMIM:615574
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Ventriculomegaly, Perisylvian polymicrogyria OMIM:619121
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Ventriculomegaly ORPHA:228308
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Narrow nasal ridge, Polymicrogyria, Ventriculomegaly, Hypoplasia of the brainstem, Underdeveloped... OMIM:618343
Hurler Syndrome
Hydrocephalus, Anteverted nares, Broad nasal tip, Wide nasal bridge, Depressed nasal bridge OMIM:607014
Cerebrofacioarticular Syndrome
Bilateral choanal atresia/stenosis, Hypospadias, Gray matter heterotopia, Ventriculomegaly, Wide ... ORPHA:314679
Mucopolysaccharidosis Type 1
Hydrocephalus, Thick nasal alae, Depressed nasal bridge, Abnormal nasal morphology ORPHA:579
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Premature pubarche, Hypoplastic labia minora, Infertility, Clitoral ... ORPHA:177904
Leukodystrophy, Hypomyelinating, 12
Ventriculomegaly OMIM:616683
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Premature pubarche, Hypoplastic labia minora, Infertility, Clitoral ... ORPHA:177901
Sotos Syndrome
Anteverted nares, Broad nasal tip, Enlarged naris, Ventriculomegaly, Cryptorchidism, Depressed na... OMIM:117550
Basel-Vanagaite-Smirin-Yosef Syndrome
Anteverted nares, Ventriculomegaly, Hypospadias, Clitoral hypertrophy OMIM:616449
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Abnormal midbrain morphology, Hypoplasia of the pons, Ventriculomegaly, Cryptor... ORPHA:444072
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Anteverted nares, Cryptorchidism, Wide anterior fontanel OMIM:182212
2P15P16.1 Microdeletion Syndrome
Prominent nasal tip, Decreased testicular size, Prominent nasal bridge, Hypogonadism, Ventriculom... ORPHA:261349
Developmental And Epileptic Encephalopathy 80
Ventriculomegaly, Wide nasal bridge, Polymicrogyria OMIM:618580
Coccidioidomycosis
Abnormality of the female genitalia, Hydrocephalus, CSF lymphocytic pleiocytosis, CSF pleocytosis... ORPHA:228123
Curry-Jones Syndrome
Ventriculomegaly ORPHA:1553
Apert Syndrome
Hydrocephalus, Choanal atresia, Choanal stenosis, Vaginal atresia, Ventriculomegaly, Cryptorchidi... OMIM:101200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Hypoplasia of the ovary, Hydrocephalus, Decreased testicular size, Convex nasal ridge... OMIM:619321
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Short nose, Underdeveloped nasal alae, Depressed nasal bridge OMIM:616007
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Anteverted nares, Polymicrogyria, Dilated third ventricle, Crypto... OMIM:620371
Fanconi Anemia, Complementation Group L
Hydrocephalus, Aplasia of the uterus, Depressed nasal tip, Micropenis, Wide nasal bridge OMIM:614083
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria ORPHA:157
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Broad nasal tip, Abnormality of the uterus, Vaginal atresia, ... ORPHA:1655
Combined Oxidative Phosphorylation Deficiency 14
Increased CSF lactate, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:614946
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Lissencephaly, Polymicrogyria, Microphallus, Hypoplasia of the pons, Lobar holoprose... ORPHA:468631
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal cortical gyration, Hypospadias, Wide nose, Cleft ala nasi, Hydroce... OMIM:219000
Otopalatodigital Syndrome Type 2
Short nose, Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Depressed nasal bridge ORPHA:90652
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Increased CSF lactate, Ventriculomegaly, Cervical myelopathy, Myelopathy OMIM:617186
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Acromelic Frontonasal Dysostosis
Midline defect of the nose, Encephalocele, Choroid plexus cyst, Bifid nasal tip, Gray matter hete... OMIM:603671
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Ventriculomegaly, Cryptorchidism, Hypoplasia of the midbrain OMIM:616202
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Polymicrogyria, Type II lissencephaly, Simplified gyral pattern, L... ORPHA:300570
Developmental And Epileptic Encephalopathy 84
Ventriculomegaly OMIM:618792
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Abnormality of the sense of smell, Ventriculomeg... ORPHA:140
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Depressed nasal bridge, Lateral ventricle dilatation OMIM:619575
Distal Deletion 6P
Wide nose, Anteverted nares, Underdeveloped nasal alae, Ventriculomegaly, Depressed nasal bridge ORPHA:96125
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brain... ORPHA:572798
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Ventriculomegaly ORPHA:261652
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydrocephalus, Choanal atresia, Overhanging nasal tip, Cryptorchidism, Micropenis, U... ORPHA:163979
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Ventriculomegaly ORPHA:431361
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
7Q11.23 Microduplication Syndrome
Abnormal columella morphology, Hypospadias, Hydrocephalus, Aplasia/hypoplasia of the uterus, Broa... ORPHA:96121
Hurler Syndrome
Hydrocephalus, Anteverted nares, Rhinitis, Wide nasal bridge, Depressed nasal bridge ORPHA:93473
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Ventriculomegaly, Abnormal cortical gyration, Hypogonadism ORPHA:79351
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Wide nasal bridge OMIM:620351
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Umbilical hernia, Lissencephaly, Crypto... ORPHA:3310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Anteverted nares, Ventriculomegaly, Wide anterior fontanel, Broad nasal tip OMIM:618548
Prader-Willi Syndrome
External genital hypoplasia, Narrow nasal bridge, Hypoplastic labia minora, Infertility, Clitoral... OMIM:176270
Takenouchi-Kosaki Syndrome
Hypospadias, Flared nostrils, Cryptorchidism, Ventriculomegaly, Bulbous nose, Wide nasal bridge OMIM:616737
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Tetraamelia Syndrome 1
Single naris, Hydrocephalus, Hypoplasia of the fallopian tube, Choanal atresia, Vaginal atresia, ... OMIM:273395
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Ventriculomegaly, Spina bifida ORPHA:1120
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventriculomegaly, Cryptorchidism, Micropenis, Wide nasal bridge OMIM:235255
Fetal Cytomegalovirus Syndrome
Ventriculomegaly ORPHA:294
Cardiofaciocutaneous Syndrome
Short nose, Hydrocephalus, Anteverted nares, Cryptorchidism, Depressed nasal bridge ORPHA:1340
Cerebrofaciothoracic Dysplasia
Short nose, Ventriculomegaly, Wide nose ORPHA:1394
Carey-Fineman-Ziter Syndrome 1
Anteverted nares, Broad nasal tip, Ventriculomegaly, Cryptorchidism, Hypoplasia of the brainstem,... OMIM:254940
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Hydrocephalus, Decreased fertility in ma... ORPHA:84
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Marshall-Smith Syndrome
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Bilateral cryptorchidism, Choanal s... OMIM:602535
Galloway-Mowat Syndrome 9
Ventriculomegaly OMIM:619603
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Prominent nasal bridge, Bulbous nose OMIM:300960
Fryns Syndrome
Hypospadias, Anteverted nares, Dandy-Walker malformation, Bicornuate uterus, Ventriculomegaly, Cr... ORPHA:2059
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Short nose, Ventriculomegaly OMIM:612394
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Depressed nasal ridge, Male... ORPHA:564
Aymé-Gripp Syndrome
Short nose, Hydrocephalus, Ventriculomegaly, Cryptorchidism, Depressed nasal bridge ORPHA:1272
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly OMIM:620352
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, D... ORPHA:99776
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ventriculomegaly, Hypospadias, Concave nasal ridge OMIM:615471
Raine Syndrome
Short nose, Hydrocephalus, Choanal atresia, Choanal stenosis, Depressed nasal bridge OMIM:259775
Dubowitz Syndrome
Abnormal female external genitalia morphology, Hypospadias, Spina bifida occulta, Hydrocephalus, ... ORPHA:235
Isotretinoin-Like Syndrome
Hydrocephalus, Anteverted nares ORPHA:2306
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Epididymal cyst, Hy... OMIM:137920
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Depressed nasal bridge ORPHA:1571
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, External genital hypoplasia, Hypospadias, Hydrocephalus, Choanal atresia, Cryptorchid... ORPHA:2658
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Koolen-De Vries Syndrome
Pear-shaped nose, Gray matter heterotopia, Cryptorchidism, Prominent nasal bridge, Ventriculomega... OMIM:610443
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Pitt-Hopkins Syndrome
Flared nostrils, Ventriculomegaly, Cryptorchidism, Micropenis, Wide nasal bridge OMIM:610954
Kleefstra Syndrome
Short nose, Hypospadias, Hypoplasia of penis, Anteverted nares, Ventriculomegaly, Cryptorchidism,... ORPHA:261494
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Ovarian cys... OMIM:311200
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly, Cryptorchidism OMIM:620024
Cardiofaciocutaneous Syndrome 1
Short nose, Hydrocephalus, Anteverted nares, Bulbous nose, Depressed nasal bridge OMIM:115150
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Hydrocephalus, Bifid scrotum, Spina bifida, M... ORPHA:322
Kabuki Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Precocious puberty, Ventriculomegaly, Cryptorchi... ORPHA:2322
Distal Deletion 3P
Anteverted nares, Ventriculomegaly, Cryptorchidism ORPHA:1620
Shprintzen-Goldberg Syndrome
Anteverted nares, Ventriculomegaly, Cryptorchidism, Communicating hydrocephalus ORPHA:2462
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Spina bifida, Ovarian carcinoma, Wide nasal bridge OMIM:109400
Hennekam-Beemer Syndrome
Long nose, Ventriculomegaly, Wide nasal bridge, Wide nose ORPHA:2135
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, male, Ambiguous genitalia, female, Hydranencephaly OMIM:260660
Trisomy 8P
Short nose, Hydrocephalus, Anteverted nares, Dandy-Walker malformation, Recurrent upper respirato... ORPHA:264450
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Congenital Syphilis
Hydrocephalus, Rhinitis, CSF pleocytosis, Concave nasal ridge ORPHA:499009
Meckel Syndrome, Type 1
Occipital encephalocele, Ambiguous genitalia, male, External genital hypoplasia, Molar tooth sign... OMIM:249000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Allergic rhinitis OMIM:618162
Microphthalmia/Coloboma 12
Ventriculomegaly OMIM:120200
Bilateral Polymicrogyria
Aplasia/Hypoplasia of the brainstem, Ventriculomegaly, Perisylvian polymicrogyria, 4-layered liss... ORPHA:268940
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Hydrocephalus... OMIM:258040
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Galloway-Mowat Syndrome 1
Narrow nasal ridge, Dandy-Walker malformation, Abnormality of neuronal migration, Pachygyria, Pro... OMIM:251300
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Bifid nose ORPHA:268249
Ring Chromosome 7 Syndrome
Short nose, Hypospadias, Anteverted nares, Prominent nasal bridge, Holoprosencephaly, Hypogonadis... ORPHA:1449
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Low hanging columella OMIM:617260
Toriello-Carey Syndrome
Short nose, Wide anterior fontanel, Dandy-Walker malformation, Ventriculomegaly, Cryptorchidism ORPHA:3338
Kaufman Oculocerebrofacial Syndrome
Short nose, Clitoral hypertrophy, Anteverted nares, Ventriculomegaly, Depressed nasal bridge, Hyp... OMIM:244450
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Wide nasal bridge ORPHA:314585
Gapo Syndrome
Short nose, Anteverted nares, Wide anterior fontanel, Ventriculomegaly, Depressed nasal bridge OMIM:230740
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Ventriculomegaly, Colpocephaly OMIM:618651
Combined Oxidative Phosphorylation Deficiency 55
Anteverted nares, Ventriculomegaly, Depressed nasal bridge OMIM:619743
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Distal 22Q11.2 Microduplication Syndrome
Wide nose, Hydrocephalus, Depressed nasal ridge, Cryptorchidism, Bulbous nose ORPHA:261337
Familial Multiple Lipomatosis
Ventriculomegaly ORPHA:199276
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Spina bifida occulta, Choanal atresia, Chordee, Choanal stenosis, Ventriculomegaly, ... OMIM:151050
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Hydrocephalus, Pear-shaped nose, Testicular neoplasm, Thick nasal alae, Spina bifida... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Hydrocephalus, Pear-shaped nose, Testicular neoplasm, Thick nasal alae, Spina bifida... ORPHA:363958
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Recurrent upper respiratory tract infections OMIM:253220
Gaucher Disease, Perinatal Lethal
Anteverted nares, Short nose, Depressed nasal bridge, Ventriculomegaly OMIM:608013
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly OMIM:304790
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Short nose, Ventriculomegaly, Abnormal cortical gyration OMIM:617527
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly, Spontaneous, recurrent epistaxis, Azoospermia ORPHA:2072
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Ambiguous genitalia, Holoprosencephaly, Anencephaly OMIM:269860
Plaa-Associated Neurodevelopmental Disorder
Short nose, Ventriculomegaly, Abnormal cortical gyration ORPHA:521426
Hoyeraal-Hreidarsson Syndrome
Ventriculomegaly ORPHA:3322
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Short nasal bridge, Pachygyria, Ventriculom... OMIM:253280
De Sanctis-Cacchione Syndrome
Ventriculomegaly, Decreased CSF 5-hydroxyindolacetic acid concentration, Gonadal hypoplasia, Bila... OMIM:278800
Codas Syndrome
Rectovaginal fistula, Anteverted nares, Ventriculomegaly, Cryptorchidism, Depressed nasal bridge OMIM:600373
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Cryptorchidism, Micropenis, Hypergonadotropic hypogonadism OMIM:227646
Congenital Enterovirus Infection
Ventriculomegaly, CSF lymphocytic pleiocytosis ORPHA:292
Au-Kline Syndrome
Short nose, Bifid nasal tip, Lipomyelomeningocele, Wide nasal ridge, Prominent nasal bridge, Vent... OMIM:616580
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Prominent nasal bridge, Communicating hydrocephalus OMIM:617011
Cockayne Syndrome A
Normal pressure hydrocephalus, Slender nose, Hypogonadism, Prominent nose, Ventriculomegaly, Cryp... OMIM:216400
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Dandy-Walker malformation, Concave nasal ridge OMIM:302960
Hajdu-Cheney Syndrome
Hypospadias, Wide nose, Hydrocephalus, Anteverted nares, Cryptorchidism OMIM:102500
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Abnormal nostril morphology, Broad nasal tip, Ventriculomegaly, Bulbous nose, Wide nasal bridge, ... ORPHA:466950
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Isolated Sedoheptulokinase Deficiency
Ventriculomegaly ORPHA:440713
Medulloblastoma
Hydrocephalus ORPHA:616
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge, Primary amenorrhea OMIM:619418
Curry-Jones Syndrome
Ventriculomegaly, Occipital meningocele, Lipomyelomeningocele, Polymicrogyria OMIM:601707
Schinzel-Giedion Midface Retraction Syndrome
Short nose, Hypospadias, Anteverted nares, Hypoplastic labia minora, Bicornuate uterus, Choanal s... OMIM:269150
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Hydrocephalus, Anteverted nares, Dandy-Walker malformation,... OMIM:270400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Depressed nasal bridge OMIM:245600
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Epistaxis ORPHA:137667
Meningioma
Hydrocephalus, Impotence, Abnormality of the sense of smell, Amenorrhea, Hypogonadotropic hypogon... ORPHA:2495
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Choanal atresia, Myelomeningocel... ORPHA:2369
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Wide nose, Dandy-Walker malformation, Depressed nasal ridge, Vaginal neoplas... ORPHA:1052
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Ventriculomegaly, Bulbous nose OMIM:614501
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Abnormal brainstem morphology, Abnormality of neuronal migration, Prominent nasal br... ORPHA:464311
Hydrolethalus Syndrome 1
Midline defect of the nose, Abnormal cortical gyration, Anencephaly, Hypospadias, Abnormal vagina... OMIM:236680
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy, Depressed nasal bridge, Recurrent upper respiratory tract inf... OMIM:253200
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ventriculomegaly OMIM:619355
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Bilateral cryptorchidism, Hypogonadism ORPHA:3042
Galloway-Mowat Syndrome 3
Ventriculomegaly, Simplified gyral pattern, Pachygyria, Lissencephaly OMIM:617729
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Wide nose, Abnormal fallopian tube morphology, Hyd... ORPHA:2556
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Campomelic Dysplasia
Hypospadias, Hydrocephalus, Wide anterior fontanel, Depressed nasal ridge, Spina bifida, Recurren... OMIM:114290
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Anteverted nares, Short nose, Depressed nasal bridge ORPHA:536467
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Prominent nasal bridge, Micropenis, Communicating hydrocephalus ORPHA:457359
Opitz Gbbb Syndrome
Hypospadias, Anteverted nares, Dandy-Walker malformation, Bifid scrotum, Bicornuate uterus, Shawl... ORPHA:2745
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly, Thick nasal alae, Adenoiditis ORPHA:581
Hajdu-Cheney Syndrome
Hypospadias, Wide nose, Hydrocephalus, Anteverted nares, Wide nasal bridge ORPHA:955
Pyruvate Carboxylase Deficiency
Decreased CSF glutamine concentration, Subependymal cysts, Increased CSF glutamate concentration,... ORPHA:3008
14Q22Q23 Microdeletion Syndrome
Small scrotum, Ventriculomegaly, Cryptorchidism, Underdeveloped nasal alae ORPHA:264200
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Ventriculomegaly OMIM:252160
Fontaine Progeroid Syndrome
Short nose, Hydrocephalus, Wide anterior fontanel, Gray matter heterotopia, Periventricular heter... OMIM:612289
Developmental And Epileptic Encephalopathy 100
Polymicrogyria, Broad nasal tip, Pachygyria, Ventriculomegaly, Depressed nasal bridge OMIM:619777
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ventriculomegaly OMIM:618222
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Ventriculomegaly OMIM:252150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Short nose ORPHA:505248
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Baller-Gerold Syndrome
Spina bifida occulta, Rectovaginal fistula, Hydrocephalus, Wide anterior fontanel, Polymicrogyria... OMIM:218600
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Broad nasal tip, Ventriculomegaly, Bulbous nose, Wide nasal bridge, Depressed nasal bridge ORPHA:466943
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Low hanging columella, Anteverted nares, Communicating hydrocephalus, Chordee, Broad... OMIM:619841
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hypoplasia of the brainstem, Prominent nasal bridge, Narrow nasal tip, Ventriculomeg... ORPHA:464306
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short nose, Hypospadias, Hypoplasia of the brainstem, Premature thelarche, Shawl scrotum, Chordee... ORPHA:268261
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Hydrocephalus, Anteverted nares, Polymicrogyria, Microlissencephaly, ... OMIM:210710
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Anteverted nares, Choanal atresia, Cryptorchidism, Hypoplasia of the pons, Ventricul... OMIM:616975
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Dandy-Walker malformation, Flared nostrils, Ventriculomegaly, Bulbous nose, Wide nas... ORPHA:487796
Jacobsen Syndrome
Short nose, Anteverted nares, Spina bifida, Broad columella, Pachygyria, Ventriculomegaly, Crypto... ORPHA:2308
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Small scrotum, Ventriculomegaly, Cryptorchidism, Wide nasal bridge, Depressed nasal ... OMIM:616734
Marden-Walker Syndrome
Hydrocephalus, Abnormal penis morphology, Hypospadias, Epispadias ORPHA:2461
Pseudoaminopterin Syndrome
Hydrocephalus, Cryptorchidism, Prominent nasal bridge ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus, Cryptorchidism, Depressed nasal bridge ORPHA:1106
Linear Nevus Sebaceus Syndrome
Ventriculomegaly, Dandy-Walker malformation ORPHA:2612
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short nose, Hypospadias, Hydrocephalus, Anteverted nares, Bifid scrotum, Depressed nasal tip, Ven... OMIM:619475
Costello Syndrome
Hydrocephalus, Anteverted nares, Wide anterior fontanel, Ventriculomegaly, Depressed nasal bridge OMIM:218040
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Wide nasal bridge, Spina bifida occulta OMIM:300373
Peters Plus Syndrome
Short nose, Hypospadias, Spina bifida occulta, Hydrocephalus, Anteverted nares, Clitoral hypoplas... ORPHA:709
Histiocytoid Cardiomyopathy
Hydrocephalus, Polycystic ovaries ORPHA:137675
Kabuki Syndrome 1
Anoperineal fistula, Hydrocephalus, Premature thelarche, Depressed nasal tip, Lateral ventricle d... OMIM:147920
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Wide nose, Perisylvian polymicrogyria, Ventriculomegaly, Bulbous nose, Depressed nasal bridge OMIM:610442
Congenital Myopathy 13
Ventriculomegaly, Cryptorchidism OMIM:255995
Alobar Holoprosencephaly
Neural tube defect, Single naris, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depres... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Single naris, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depres... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Single naris, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depres... ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Single naris, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depres... ORPHA:220386
Cystic Fibrosis
Male infertility OMIM:219700
Knobloch Syndrome 1
Occipital encephalocele, Spina bifida occulta, Polymicrogyria, Occipital meningocele, Ventriculom... OMIM:267750
Coffin-Lowry Syndrome
Short nose, Wide nose, Anteverted nares, Thick nasal alae, Uterine prolapse, Broad columella, Thi... OMIM:303600
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Hydrocephalus, Wide anterior fontanel, Abnormal external genitalia, Polymicrogyria, ... OMIM:607872
22Q11.2 Deletion Syndrome
Hypospadias, Meningocele, Hydrocephalus, Choanal atresia, Spina bifida, Cryptorchidism, Prominent... ORPHA:567
Aicardi Syndrome
Precocious puberty, Ventriculomegaly, Pachygyria, Polymicrogyria ORPHA:50
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short nose, Hypospadias, Cryptorchidism, Broad nasal tip, Ventriculomegaly, Bulbous nose, Micrope... OMIM:309590
Coffin-Siris Syndrome 12
Hypospadias, Low hanging columella, Anteverted nares, Prominent nasal tip, Cryptorchidism, Depres... OMIM:619325
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Cryptorchidism, Depressed nasal tip OMIM:208150
Wolf-Hirschhorn Syndrome
Hypospadias, Hydrocephalus, Aplasia of the uterus, Precocious puberty, Convex nasal ridge, Ventri... OMIM:194190
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy, Brain stem compression ORPHA:637
Neu-Laxova Syndrome 1
Wide nose, Hydranencephaly, Lissencephaly, Dandy-Walker malformation, Choroid plexus cyst, Depres... OMIM:256520
Schinzel-Giedion Syndrome
Short nose, Neural tube defect, Hypospadias, Wide anterior fontanel, Choroid plexus cyst, Broad n... ORPHA:798
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Anteverted nares, Phimosis, Hypoplasia of the pons, Chordee, Ventriculomegaly, Wide nasal bridge OMIM:620455
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Yunis-Varon Syndrome
Narrow nasal base, Clitoral hypertrophy, Hypospadias, Hydrocephalus, Anteverted nares, Pachygyria... ORPHA:3472
Cockayne Syndrome B
Normal pressure hydrocephalus, Slender nose, Prominent nasal bridge, Cryptorchidism, Micropenis OMIM:133540
Ctcf-Related Neurodevelopmental Disorder
Short nose, Hypoplastic labia majora, Anteverted nares, Phimosis, Broad nasal tip, Ventriculomega... ORPHA:363611
Proboscis Lateralis
External genital hypoplasia, Single naris, Proboscis, Choanal atresia, Holoprosencephaly, Ventric... ORPHA:141099
Adams-Oliver Syndrome 1
Encephalocele, Polymicrogyria, Imperforate hymen, Pachygyria, Ventriculomegaly OMIM:100300
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Long penis, Hydrocephalus, Anteverted nares, Narrow nasal ridge, Dandy-Walker malfor... OMIM:264090
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Mucopolysaccharidosis Type 2
Wide nose, Otosclerosis, Communicating hydrocephalus, Recurrent upper respiratory tract infection... ORPHA:580
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal cortical gyration, Wide nasal base, Dandy-Walker malformation, Flared nostrils, Hypoplas... ORPHA:480880
Witteveen-Kolk Syndrome
Short nose, Hypospadias, Wide nose, Anteverted nares, Flared nostrils, Male urethral meatus steno... OMIM:613406
Alpha-Mannosidosis, Infantile Form
Depressed nasal bridge, Communicating hydrocephalus ORPHA:309282
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Anteverted nares, Prominent nasal tip, Pachygyria, Ventriculomegaly, Depressed nasal bridge ORPHA:513456
Focal Dermal Hypoplasia
Cleft ala nasi, Narrow nasal bridge, Hydrocephalus, Spina bifida occulta, Labial hypoplasia, Myel... OMIM:305600
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Chronic rhinitis ORPHA:667
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Convex nasal ridge, Ventriculomegaly, Brain stem c... ORPHA:666
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Hydrocephalus, Bifid scrotum, Choanal atresia, Rectoperineal f... OMIM:107480
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:881
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydrocephalus, Wide anterior fontanel, Spina bifida, Cryptorchidism, Depressed nasal... OMIM:304120
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ambiguous genitalia, Wide nose, Hypoplasia of penis, Dandy-Walker malformation, Uterus didelphys,... ORPHA:93271
Hydranencephaly
Ventriculomegaly ORPHA:2177
Cornelia De Lange Syndrome
Short nose, Hypospadias, Hypoplasia of penis, Anteverted nares, Choanal atresia, Abnormality of t... ORPHA:199
Femoral-Facial Syndrome
Short nose, Encephalocele, Spina bifida, Ventriculomegaly, Cryptorchidism, Micropenis, Underdevel... OMIM:134780
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Hydrocephalus, Anteverted nares, Polymicrogyria, Wide nasal ridge, Wide penis, Conve... ORPHA:3455
Peters-Plus Syndrome
Hypospadias, Hydrocephalus, Wide anterior fontanel, Clitoral hypoplasia, Hypoplasia of the vagina... OMIM:261540
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Hydrocephalus, Bicornuate u... OMIM:268300
3-Methylglutaconic Aciduria, Type Viii
Increased CSF lactate, Ventriculomegaly OMIM:617248
Neurofibromatosis Type 1
Hydrocephalus, Cryptorchidism, Precocious puberty ORPHA:636
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypospadias, Hypogonadism OMIM:163950
Simpson-Golabi-Behmel Syndrome, Type 1
Short nose, Hypospadias, Hydrocephalus, Anteverted nares, Cryptorchidism, Wide nasal bridge, Depr... OMIM:312870
Mowat-Wilson Syndrome
Hypospadias, Low hanging columella, Prominent nasal tip, Bifid scrotum, Ventriculomegaly, Cryptor... OMIM:235730
Alström Syndrome
Precocious puberty in females, Hypoplasia of the Leydig cells, Decreased fertility in males, Dela... ORPHA:64
Primrose Syndrome
Anteverted nares, Bilateral cryptorchidism, Hypergonadotropic hypogonadism, Broad nasal tip, Vent... OMIM:259050
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Microphthalmia, Syndromic 6
Small scrotum, Ventriculomegaly, Cryptorchidism, Female hypogonadism OMIM:607932
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cfap206

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cfap206.

No publications found that use IMPC mice or data for Cfap206.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cfap206em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cfap206tm33834(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cfap206tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfap206tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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